Albinism is a group of inherited abnormalities of melanin synthesis and are characterized by a decrease or absence of melanin pigment. There are several types of albinism, one of them being oculocutaneous albinism (OCA). OCA is an autosomal recessive disease of melanin biosynthesis which leads to complete or partial loss of melanin in the skin, hair follicles and eyes. This is due to mutations in genes encoding for enzymes responsible for melanin synthesis. The clinical symptoms and the course of the disease show a pronounced variability, this is due to different gene mutations affecting various points along the melanin pathway. Some of the manifestations include nystagmus, iris hypopigmentation and translucency, reduced pigmentation of the retina, reduced visual acuity etc. They are prone to deleterious effects of ultraviolet light, and therefore increased susceptibility to develop actinic keratosis, squamous cell carcinoma and basal cell carcinoma.
The Igenomix Oculocutaneous Albinism Precision Panel can be used to make an accurate and directed diagnosis ultimately leading to a better management and prognosis of the disease. It provides a comprehensive analysis of the genes involved in this disease using next-generation sequencing (NGS) to fully understand the spectrum of relevant genes involved.
- The Igenomix Oculocutaneous Albinism Precision Panel is indicated for those patients with a clinical suspicion or diagnosis with or without the following manifestations:
- Pinkish-coloured skin
- Blue-gray irides
- White hair
- Prominent red reflex
- Poor visual acuity
- Foveal hypoplasia
The clinical utility of this panel is:
- The genetic and molecular confirmation for an accurate clinical diagnosis of a symptomatic patient. Patient education on preventive sun exposure measures.
- Early initiation of protection from sunlight in form of sunscreen and sun-avoidance methods. Surveillance for early detection of neoplasms and ophthalmology consultations.
- Risk assessment and genetic counselling of asymptomatic family members according to the mode of inheritance.
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